Abstract：
OBJECTIVE: We report a low-grade endometrial stromal sarcoma (ESS) with a novel CDKN1A-JAZF1 fusion gene arising from abdominal wall endometrioma.
METHODS: A 40-year-old woman presented with a 5.5-cm abdominal wall mass juxtaposed to the postoperative scar of two cesarean sections. Histologically, the tumor exhibited obvious tongue-like protrusions into the surrounding tissue, showed spindle cells with multinodular growth pattern that occasionally rotate around small arteries. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor (ER), progesterone receptor (PR), negatively stained for smooth muscle actin (SMA), CD117, CyclinD1. In addition, a previously undescribed gene fusion between CDNK1A 5\' end of exon 1(NM_000389.5) and JAZF1 3\' end of exon 5 (NM_175,061,3) was reported in this case.
CONCLUSIONS: This report of ESS suggesting that rapidly growing abdominal wall masses without menstruation-related should be promptly evaluated and treated aggressively. In addition, we have expanded the molecular landscape of low-grade ESS.
METHODS: A 40-year-old woman presented with a 5.5-cm abdominal wall mass juxtaposed to the postoperative scar of two cesarean sections. Histologically, the tumor exhibited obvious tongue-like protrusions into the surrounding tissue, showed spindle cells with multinodular growth pattern that occasionally rotate around small arteries. Immunohistochemically, the tumor cells were positive for CD10, estrogen receptor (ER), progesterone receptor (PR), negatively stained for smooth muscle actin (SMA), CD117, CyclinD1. In addition, a previously undescribed gene fusion between CDNK1A 5\' end of exon 1(NM_000389.5) and JAZF1 3\' end of exon 5 (NM_175,061,3) was reported in this case.
CONCLUSIONS: This report of ESS suggesting that rapidly growing abdominal wall masses without menstruation-related should be promptly evaluated and treated aggressively. In addition, we have expanded the molecular landscape of low-grade ESS.
摘要：
目的：我们报道了一个低级别子宫内膜间质肉瘤（ESS），它具有一个新的CDKN1A-JAZF1融合基因，来自腹壁子宫内膜瘤。
方法：一名40岁的妇女出现了一个5.5厘米的腹壁肿块，与两次剖宫产术后的疤痕并列。组织学上,肿瘤表现出明显的舌状突起进入周围组织，显示梭形细胞具有多结节性生长模式，偶尔围绕小动脉旋转。免疫组织化学，肿瘤细胞CD10，雌激素受体（ER），孕激素受体（PR），平滑肌肌动蛋白（SMA）阴性，CD117、CyclinD1。此外,在这种情况下，报道了外显子1的CDNK1A5'末端（NM_000389.5）和外显子5的JAZF13'末端（NM_175,061,3）之间先前未描述的基因融合。
结论：ESS的这份报告表明，应及时评估和积极治疗无月经相关的快速增长的腹壁肿块。此外,我们扩大了低等级ESS的分子景观。
方法：一名40岁的妇女出现了一个5.5厘米的腹壁肿块，与两次剖宫产术后的疤痕并列。组织学上,肿瘤表现出明显的舌状突起进入周围组织，显示梭形细胞具有多结节性生长模式，偶尔围绕小动脉旋转。免疫组织化学，肿瘤细胞CD10，雌激素受体（ER），孕激素受体（PR），平滑肌肌动蛋白（SMA）阴性，CD117、CyclinD1。此外,在这种情况下，报道了外显子1的CDNK1A5'末端（NM_000389.5）和外显子5的JAZF13'末端（NM_175,061,3）之间先前未描述的基因融合。
结论：ESS的这份报告表明，应及时评估和积极治疗无月经相关的快速增长的腹壁肿块。此外,我们扩大了低等级ESS的分子景观。
